Product Details

SNP ID
hCV27531873
Assay Type
Functionally tested
NCBI dbSNP Submissions
NA
Location
Chr.X:10454918 on Build GRCh38
Set Membership
Context Sequence [VIC/FAM]
TTCCCAATAATGCCGGCCACTATCA[A/G]TAAACACATTTCCAGCTACTCCATA
Phenotype
MIM: 300552
Polymorphism
A/G, Transition substitution
Allele Nomenclature
Literature Links
MID1 PubMed Links

Gene Details

Gene
MID1
Gene Name
midline 1
Transcript Accession SNP Location SNP Type Codon Change Amino Acid Change Protein ID
NM_000381.3 1938 Missense Mutation ACT,ATT T536I NP_000372.1
NM_001098624.2 1938 Missense Mutation ACT,ATT T536I NP_001092094.1
NM_001193277.1 1938 Missense Mutation ACT,ATT T536I NP_001180206.1
NM_001193278.1 1938 Intron NP_001180207.1
NM_001193279.1 1938 Intron NP_001180208.1
NM_001193280.1 1938 Intron NP_001180209.1
NM_001193281.1 1938 Intron NP_001180210.1
NM_033289.1 1938 Missense Mutation ACT,ATT T498I NP_150631.1
NM_033290.3 1938 Missense Mutation ACT,ATT T536I NP_150632.1

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